J Med Genet -- Table of Contents (20 [5])

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October 1983 (Volume 20, Number 5). [Index by author]

		Research Article

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Research Article

The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distributions.
D A Evans, D Harmer, D Y Downham, E J Whibley, J R Idle, J Ritchie, and R L Smith
J Med Genet 1983; 20: 321-329. doi:10.1136/jmg.20.5.321 [Abstract] [PDF] [Request Permissions]

The association of the slow acetylator phenotype with bladder cancer.
D A Evans, L C Eze, and E J Whibley
J Med Genet 1983; 20: 330-333. doi:10.1136/jmg.20.5.330 [Abstract] [PDF] [Request Permissions]

Linkage analysis of neurofibromatosis (von Recklinghausen disease).
M A Spence, J L Bader, D M Parry, L L Field, S J Funderburk, A E Rubenstein, P A Gilman, and R S Sparkes
J Med Genet 1983; 20: 334-337. doi:10.1136/jmg.20.5.334 [Abstract] [PDF] [Request Permissions]

Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire.
T J David, F C McCrae, and J P Bound
J Med Genet 1983; 20: 338-341. doi:10.1136/jmg.20.5.338 [Abstract] [PDF] [Request Permissions]

Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis.
H T Lynch, R M Fusaro, W J Kimberling, J F Lynch, and B S Danes
J Med Genet 1983; 20: 342-344. doi:10.1136/jmg.20.5.342 [Abstract] [PDF] [Request Permissions]

The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis.
S Voutsinas and R Wynne-Davies
J Med Genet 1983; 20: 345-349. doi:10.1136/jmg.20.5.345 [Abstract] [PDF] [Request Permissions]

C heterochromatin variation in couples with recurrent early abortions.
A Maes, C Staessen, L Hens, E Vamos, M Kirsch-Volders, M C Lauwers, E Defrise-Gussenhoven, and C Susanne
J Med Genet 1983; 20: 350-356. doi:10.1136/jmg.20.5.350 [Abstract] [PDF] [Request Permissions]

Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance?
D L Viljoen, S L Sellars, and P Beighton
J Med Genet 1983; 20: 357-360. doi:10.1136/jmg.20.5.357 [Abstract] [PDF] [Request Permissions]

Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.
A D Griffiths
J Med Genet 1983; 20: 361-364. doi:10.1136/jmg.20.5.361 [Abstract] [PDF] [Request Permissions]

HLA-DR2 in two sibships with insulin-dependent diabetes mellitus.
I Deschamps, H Lestradet, M Schmid, and J Hors
J Med Genet 1983; 20: 365-366. doi:10.1136/jmg.20.5.365 [Abstract] [PDF] [Request Permissions]

Empirical recurrence risk after unidentified multiple congenital abnormalities.
A Czeizel and J Métneki
J Med Genet 1983; 20: 367-371. doi:10.1136/jmg.20.5.367 [Abstract] [PDF] [Request Permissions]

Spontaneous and mutagen induced sister chromatid exchange in multiple sclerosis.
Vijayalaxmi, M S Newton, C M Steel, H J Evans, and B Pentland
J Med Genet 1983; 20: 372-376. doi:10.1136/jmg.20.5.372 [Abstract] [PDF] [Request Permissions]

Monosomy 18p and pure trisomy 18p in a family with translocation (7;18).
M Habedank and G Trost-Brinkhues
J Med Genet 1983; 20: 377-379. doi:10.1136/jmg.20.5.377 [Abstract] [PDF] [Request Permissions]

Two cases of ring chromosome 11.
D R Romain, O B Gebbie, R G Parfitt, L M Columbano-Green, R H Smythe, C J Chapman, and A Kerr
J Med Genet 1983; 20: 380-382. doi:10.1136/jmg.20.5.380 [Abstract] [PDF] [Request Permissions]

A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23).
D J Shawe, C Fear, and W J Appleyard
J Med Genet 1983; 20: 383-385. doi:10.1136/jmg.20.5.383 [Abstract] [PDF] [Request Permissions]

De novo translocation heterozygote with three reciprocal translocations.
J L Watt and D A Couzin
J Med Genet 1983; 20: 385-388. doi:10.1136/jmg.20.5.385 [Abstract] [PDF] [Request Permissions]

A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.
D A Couzin, J L Watt, and I A Auchterlonie
J Med Genet 1983; 20: 389-392. doi:10.1136/jmg.20.5.389 [Abstract] [PDF] [Request Permissions]

Yq deletion with short stature, abnormal male development, and schizoid character disorder.
G Kosztolányi and M Trixler
J Med Genet 1983; 20: 393-394. doi:10.1136/jmg.20.5.393 [Abstract] [PDF] [Request Permissions]

Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11).
E Orye, Y Benoit, and B van Mele
J Med Genet 1983; 20: 394-396. doi:10.1136/jmg.20.5.394 [Abstract] [PDF] [Request Permissions]

Tetrasomy 9p confirmed by GALT.
P Balestrazzi, G Croci, C Frassi, F Franchi, and G Giovannelli
J Med Genet 1983; 20: 396-399. doi:10.1136/jmg.20.5.396 [Abstract] [PDF] [Request Permissions]

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	The genetic control of sparteine and debrisoquine metabolism in man with new methods of analysing bimodal distributions. D A Evans, D Harmer, D Y Downham, E J Whibley, J R Idle, J Ritchie, and R L Smith J Med Genet 1983; 20: 321-329. doi:10.1136/jmg.20.5.321 [Abstract] [PDF] [Request Permissions]

	The association of the slow acetylator phenotype with bladder cancer. D A Evans, L C Eze, and E J Whibley J Med Genet 1983; 20: 330-333. doi:10.1136/jmg.20.5.330 [Abstract] [PDF] [Request Permissions]

	Linkage analysis of neurofibromatosis (von Recklinghausen disease). M A Spence, J L Bader, D M Parry, L L Field, S J Funderburk, A E Rubenstein, P A Gilman, and R S Sparkes J Med Genet 1983; 20: 334-337. doi:10.1136/jmg.20.5.334 [Abstract] [PDF] [Request Permissions]

	Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire. T J David, F C McCrae, and J P Bound J Med Genet 1983; 20: 338-341. doi:10.1136/jmg.20.5.338 [Abstract] [PDF] [Request Permissions]

	Familial atypical multiple mole-melanoma (FAMMM) syndrome: segregation analysis. H T Lynch, R M Fusaro, W J Kimberling, J F Lynch, and B S Danes J Med Genet 1983; 20: 342-344. doi:10.1136/jmg.20.5.342 [Abstract] [PDF] [Request Permissions]

	The infrequency of malignant disease in diaphyseal aclasis and neurofibromatosis. S Voutsinas and R Wynne-Davies J Med Genet 1983; 20: 345-349. doi:10.1136/jmg.20.5.345 [Abstract] [PDF] [Request Permissions]

	C heterochromatin variation in couples with recurrent early abortions. A Maes, C Staessen, L Hens, E Vamos, M Kirsch-Volders, M C Lauwers, E Defrise-Gussenhoven, and C Susanne J Med Genet 1983; 20: 350-356. doi:10.1136/jmg.20.5.350 [Abstract] [PDF] [Request Permissions]

	Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? D L Viljoen, S L Sellars, and P Beighton J Med Genet 1983; 20: 357-360. doi:10.1136/jmg.20.5.357 [Abstract] [PDF] [Request Permissions]

	Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia. A D Griffiths J Med Genet 1983; 20: 361-364. doi:10.1136/jmg.20.5.361 [Abstract] [PDF] [Request Permissions]

	HLA-DR2 in two sibships with insulin-dependent diabetes mellitus. I Deschamps, H Lestradet, M Schmid, and J Hors J Med Genet 1983; 20: 365-366. doi:10.1136/jmg.20.5.365 [Abstract] [PDF] [Request Permissions]

	Empirical recurrence risk after unidentified multiple congenital abnormalities. A Czeizel and J Métneki J Med Genet 1983; 20: 367-371. doi:10.1136/jmg.20.5.367 [Abstract] [PDF] [Request Permissions]

	Spontaneous and mutagen induced sister chromatid exchange in multiple sclerosis. Vijayalaxmi, M S Newton, C M Steel, H J Evans, and B Pentland J Med Genet 1983; 20: 372-376. doi:10.1136/jmg.20.5.372 [Abstract] [PDF] [Request Permissions]

	Monosomy 18p and pure trisomy 18p in a family with translocation (7;18). M Habedank and G Trost-Brinkhues J Med Genet 1983; 20: 377-379. doi:10.1136/jmg.20.5.377 [Abstract] [PDF] [Request Permissions]

	Two cases of ring chromosome 11. D R Romain, O B Gebbie, R G Parfitt, L M Columbano-Green, R H Smythe, C J Chapman, and A Kerr J Med Genet 1983; 20: 380-382. doi:10.1136/jmg.20.5.380 [Abstract] [PDF] [Request Permissions]

	A child with partial trisomy of chromosome 17 and partial monosomy of chromosome 3: 46,XY,der(3),t(3;17)(p25;q23). D J Shawe, C Fear, and W J Appleyard J Med Genet 1983; 20: 383-385. doi:10.1136/jmg.20.5.383 [Abstract] [PDF] [Request Permissions]

	De novo translocation heterozygote with three reciprocal translocations. J L Watt and D A Couzin J Med Genet 1983; 20: 385-388. doi:10.1136/jmg.20.5.385 [Abstract] [PDF] [Request Permissions]

	A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation. D A Couzin, J L Watt, and I A Auchterlonie J Med Genet 1983; 20: 389-392. doi:10.1136/jmg.20.5.389 [Abstract] [PDF] [Request Permissions]

	Yq deletion with short stature, abnormal male development, and schizoid character disorder. G Kosztolányi and M Trixler J Med Genet 1983; 20: 393-394. doi:10.1136/jmg.20.5.393 [Abstract] [PDF] [Request Permissions]

	Complete trisomy 5p owing to de novo translocation t(5;22)(q11;p11) with isochromosome 5p associated with a familial pericentric inversion of chromosome 2, inv 2(p21q11). E Orye, Y Benoit, and B van Mele J Med Genet 1983; 20: 394-396. doi:10.1136/jmg.20.5.394 [Abstract] [PDF] [Request Permissions]

	Tetrasomy 9p confirmed by GALT. P Balestrazzi, G Croci, C Frassi, F Franchi, and G Giovannelli J Med Genet 1983; 20: 396-399. doi:10.1136/jmg.20.5.396 [Abstract] [PDF] [Request Permissions]